MCCRP3
MCID: MCR272
MIFTS: 24

Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 (MCCRP3)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards integrated aliases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

Name: Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 57 72 29 6
Mccrp3 57 72
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three unrelated french families have been reported (last curated april 2015)


HPO:

31
microcephaly and chorioretinopathy, autosomal recessive, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

UniProtKB/Swiss-Prot : 72 Microcephaly and chorioretinopathy, autosomal recessive, 3: A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 3, also known as mccrp3, is related to microcephaly and microcephaly chorioretinopathy recessive form. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 is TUBGCP4 (Tubulin Gamma Complex Associated Protein 4), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include retina, and related phenotypes are abnormal facial shape and nystagmus

More information from OMIM: 616335 PS251270

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Human phenotypes related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 occasional (7.5%) HP:0001999
2 nystagmus 31 HP:0000639
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 microphthalmia 31 HP:0000568
6 chorioretinal dysplasia 31 HP:0007731
7 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
microphthalmia
decreased visual acuity
chorioretinopathy
punched-out appearance of the retina
more
Neurologic Central Nervous System:
learning difficulties
delayed development, mild

Head And Neck Head:
microcephaly

Head And Neck Face:
dysmorphic facial features (1 family)

Clinical features from OMIM®:

616335 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic Tests for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic tests related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

# Genetic test Affiliating Genes
1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 29 TUBGCP4

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

40
Retina

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Articles related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

# Title Authors PMID Year
1
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. 6 57
25817018 2015
2
TUBGCP4 - associated microcephaly and chorioretinopathy. 61
32270730 2020

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

ClinVar genetic disease variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBGCP4 NM_014444.2(TUBGCP4):c.1732-?_*544+?del Deletion Pathogenic 190125 GRCh37:
GRCh38:
2 TUBGCP4 NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs) Deletion Pathogenic 190126 rs794726856 GRCh37: 15:43668790-43668790
GRCh38: 15:43376592-43376592
3 TUBGCP4 NM_014444.5(TUBGCP4):c.1380G>A (p.Trp460Ter) SNV Pathogenic 803072 rs1595496969 GRCh37: 15:43690339-43690339
GRCh38: 15:43398141-43398141
4 TUBGCP4 NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) Duplication Pathogenic 190124 rs794726855 GRCh37: 15:43675557-43675558
GRCh38: 15:43383359-43383360
5 TUBGCP4 , TP53BP1 NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) SNV Pathogenic 190123 rs200092283 GRCh37: 15:43695895-43695895
GRCh38: 15:43403697-43403697
6 TUBGCP4 NM_014444.5(TUBGCP4):c.889+2T>C SNV Pathogenic 1029278 GRCh37: 15:43678156-43678156
GRCh38: 15:43385958-43385958
7 TUBGCP4 NM_014444.5(TUBGCP4):c.778C>T (p.Arg260Ter) SNV Likely pathogenic 982788 GRCh37: 15:43678043-43678043
GRCh38: 15:43385845-43385845

Expression for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3.

Pathways for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Pathways related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 TUBGCP4 TP53BP1

GO Terms for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Sources for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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